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Aliases for HDAC4 Gene

Aliases for HDAC4 Gene

  • Histone Deacetylase 4 2 3 5
  • EC 3.5.1.98 4 61
  • HD4 3 4
  • Brachydactyly-Mental Retardation Syndrome 2
  • Histone Deacetylase A 3
  • KIAA0288 4
  • HA6116 3
  • HDAC-4 3
  • HDAC-A 3
  • HDACA 3
  • AHO3 3
  • BDMR 3

External Ids for HDAC4 Gene

Previous HGNC Symbols for HDAC4 Gene

  • BDMR

Previous GeneCards Identifiers for HDAC4 Gene

  • GC02M237911
  • GC02M238543
  • GC02M239886
  • GC02M240182
  • GC02M239707
  • GC02M239634
  • GC02M239969
  • GC02M231741

Summaries for HDAC4 Gene

Entrez Gene Summary for HDAC4 Gene

  • Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]

GeneCards Summary for HDAC4 Gene

HDAC4 (Histone Deacetylase 4) is a Protein Coding gene. Diseases associated with HDAC4 include Chromosome 2Q37 Deletion Syndrome and 2Q37 Microdeletion Syndrome. Among its related pathways are Signaling by NOTCH1 and Cell cycle. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is HDAC5.

UniProtKB/Swiss-Prot for HDAC4 Gene

  • Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at Lys-77 leading to their preferential binding to co-chaperone STUB1 (PubMed:27708256).

Tocris Summary for HDAC4 Gene

  • Histone deacetylases (HDACs) are a group of enzymes closely related to sirtuins. They catalyze acetyl group removal from lysine residues in histones and non-histone proteins, causing transcriptional repression. HDACs are usually components of multiprotein complexes.

Gene Wiki entry for HDAC4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HDAC4 Gene

Genomics for HDAC4 Gene

Regulatory Elements for HDAC4 Gene

Enhancers for HDAC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G239272 2 FANTOM5 Ensembl ENCODE dbSUPER 13.4 +124.6 124643 8.4 FOXA2 PKNOX1 SIN3A YBX1 ZNF2 ZNF766 FOS JUNB ZHX2 REST HDAC4 MIR4269 LOC101928111 GC02M239271 MGC16025
GH02G239263 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +135.2 135171 6.2 HDGF PKNOX1 ATF1 FOXA2 GATA2 ZNF143 ZNF207 REST TBX21 ZNF592 HDAC4 LOC101928111 MIR4269 GC02M239271 MGC16025
GH02G239150 0.9 ENCODE dbSUPER 25.9 +249.9 249907 3.0 NONO ZNF211 FOXK2 ARNT ZSCAN4 NBN MNT FOXP1 HDAC4 LOC101928111 GC02M239160 MGC16025
GH02G239220 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +177.1 177102 8.3 PKNOX1 FOXA2 ARNT ZFP64 ARID4B YBX1 ZNF48 YY1 REST MIER3 HDAC4 LOC101928111 MGC16025 GC02M239271
GH02G239368 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +31.9 31873 1.9 CTCF MXI1 TBL1XR1 MAX EBF1 ZBTB40 RELA ARID3A EGR1 ELK1 HDAC4 LOC101928111 MIR2467
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HDAC4 on UCSC Golden Path with GeneCards custom track

Promoters for HDAC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133040 654 2801 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1

Genomic Location for HDAC4 Gene

Chromosome:
2
Start:
239,048,168 bp from pter
End:
239,401,654 bp from pter
Size:
353,487 bases
Orientation:
Minus strand

Genomic View for HDAC4 Gene

Genes around HDAC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HDAC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HDAC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HDAC4 Gene

Proteins for HDAC4 Gene

  • Protein details for HDAC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56524-HDAC4_HUMAN
    Recommended name:
    Histone deacetylase 4
    Protein Accession:
    P56524
    Secondary Accessions:
    • E9PGB9
    • F5GX36
    • Q86YH7
    • Q9UND6

    Protein attributes for HDAC4 Gene

    Size:
    1084 amino acids
    Molecular mass:
    119040 Da
    Quaternary structure:
    • Homodimer. Homodimerization via its N-terminal domain (PubMed:12032081). Interacts with MEF2A (PubMed:10487761). Interacts with MEF2C and MEF2D (PubMed:10523670). Interacts with AHRR (By similarity). Interacts with NR2C1 (PubMed:11463856). Interacts with HDAC7 (By similarity). Interacts with a 14-3-3 chaperone protein in a phosphorylation dependent manner (PubMed:10958686). Interacts with BTBD14B (By similarity). Interacts with KDM5B (PubMed:17373667). Interacts with MYOCD (By similarity). Interacts with MORC2 (PubMed:20110259). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats). Interacts with CUL7 (as part of the 3M complex); negatively regulated by ANKRA2 (PubMed:25752541). Interacts with EP300 in the presence of TFAP2C (PubMed:24413532). Interacts with HSPA1A and HSPA1B leading to their deacetylation at Lys-77 (PubMed:27708256).
    SequenceCaution:
    • Sequence=BAA22957.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HDAC4 Gene

    Alternative splice isoforms for HDAC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HDAC4 Gene

Selected DME Specific Peptides for HDAC4 Gene

P56524:
  • SGPSSPN
  • EYLAAFR
  • RVNHMPS
  • HHGNGTQ
  • HTLLYGT
  • AFRTVVMPIA
  • YNHPVLGMYD
  • LYTSPSLPNI
  • VPMDLRLDHQF
  • EQELLFRQQALLLEQQRIHQLRNYQAS
  • SKILIVD
  • DDFPLRKTASEPNLK
  • VDWDVHHG
  • AETSLAHRLV
  • SLDQSSPP
  • GELKNGFA
  • HPEETEEEL
  • QQEMLAMKHQQELLEHQRKLE
  • LMGLAGG
  • GNFFPGSGA
  • ERHRQEQ
  • RTQSAPLPQ
  • GFDAVEGH
  • VLALEGGHDLTAICDASEACVSALL
  • IRGRKATL
  • GRIQSIWS
  • HPEHAGRIQS
  • LLYGTNPL
  • QQQHQQFLEK
  • SVQEPPTKPRFTTGLVYDTLMLKHQCTCG

Post-translational modifications for HDAC4 Gene

  • Phosphorylated by CaMK4 at Ser-246, Ser-467 and Ser-632. Phosphorylation at other residues by CaMK2D is required for the interaction with 14-3-3. Phosphorylation at Ser-350, within the PxLPxI/L motif, impairs the binding of ANKRA2 but generates a high-affinity docking site for 14-3-3.
  • Sumoylation on Lys-559 is promoted by the E3 SUMO-protein ligase RANBP2, and prevented by phosphorylation by CaMK4.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HDAC4 Gene

Gene Families for HDAC4 Gene

Suggested Antigen Peptide Sequences for HDAC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56524

UniProtKB/Swiss-Prot:

HDAC4_HUMAN :
  • The nuclear export sequence mediates the shuttling between the nucleus and the cytoplasm.
  • Belongs to the histone deacetylase family. HD type 2 subfamily.
Domain:
  • The nuclear export sequence mediates the shuttling between the nucleus and the cytoplasm.
  • The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2.
Family:
  • Belongs to the histone deacetylase family. HD type 2 subfamily.
genes like me logo Genes that share domains with HDAC4: view

Function for HDAC4 Gene

Molecular function for HDAC4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone.
UniProtKB/Swiss-Prot Function:
Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at Lys-77 leading to their preferential binding to co-chaperone STUB1 (PubMed:27708256).

Enzyme Numbers (IUBMB) for HDAC4 Gene

Gene Ontology (GO) - Molecular Function for HDAC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001025 RNA polymerase III transcription factor binding IPI 23867755
GO:0001047 core promoter binding IDA 24413532
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003714 transcription corepressor activity IEA --
genes like me logo Genes that share ontologies with HDAC4: view
genes like me logo Genes that share phenotypes with HDAC4: view

Human Phenotype Ontology for HDAC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HDAC4 Gene

MGI Knock Outs for HDAC4:

Animal Model Products

  • Taconic Biosciences Mouse Models for HDAC4

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for HDAC4 Gene

Localization for HDAC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HDAC4 Gene

Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. Upon muscle cells differentiation, it accumulates in the nuclei of myotubes, suggesting a positive role of nuclear HDAC4 in muscle differentiation. The export to cytoplasm depends on the interaction with a 14-3-3 chaperone protein and is due to its phosphorylation at Ser-246, Ser-467 and Ser-632 by CaMK4 and SIK1. The nuclear localization probably depends on sumoylation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HDAC4 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for HDAC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex IDA 11804585
GO:0005634 nucleus IDA,IEA 10869435
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA 10869435
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HDAC4: view

Pathways & Interactions for HDAC4 Gene

genes like me logo Genes that share pathways with HDAC4: view

SIGNOR curated interactions for HDAC4 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HDAC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IGI,IMP 18850004
GO:0001501 skeletal system development IEA --
GO:0002076 osteoblast development IEA --
GO:0006325 chromatin organization IEA --
GO:0006338 chromatin remodeling IDA 18850004
genes like me logo Genes that share ontologies with HDAC4: view

Drugs & Compounds for HDAC4 Gene

(48) Drugs for HDAC4 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sodium phenylbutyrate Approved Pharma Inhibitor Histone deacetylase inhibitor, Histone deacetylase (HDAC)inhibitors 0
Belinostat Approved, Investigational Pharma Inhibitor, Target Histone deacetylase (HDAC)inhibitors 42
Panobinostat Approved, Investigational Pharma Inhibition, inhibitor, Target Histone deacetylase (HDAC)inhibitors 135
Romidepsin Approved, Investigational Pharma inhibitor, Target Histone deacetylase (HDAC)inhibitors 87
Valproic Acid Approved, Investigational Pharma inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 327

(7) Additional Compounds for HDAC4 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FK 228
128517-07-7
MC 1742
1776116-74-5
SAHA
149647-78-9

(5) Tocris Compounds for HDAC4 Gene

Compound Action Cas Number
FK 228 Potent and selective class I histone deacetylase inhibitor; antitumor 128517-07-7
MC 1568 Selective HDAC class II (IIa) inhibitor 852475-26-4
MC 1742 Potent class I and IIb HDAC inhibitor 1776116-74-5
SAHA Class I and II HDAC inhibitor 149647-78-9
Trichostatin A Potent histone deacetylase inhibitor 58880-19-6

(21) ApexBio Compounds for HDAC4 Gene

Compound Action Cas Number
AR-42 (OSU-HDAC42) HDAC inhibitor,novel and potent 935881-37-1
Belinostat (PXD101) Hydroxamate-type HDAC inhibitor 414864-00-9
BMS-345541(free base) IKK-1/IKK-2 inhibitor,potent and selective 445430-58-0
HPOB HDAC6 inhibitor, potent and selective 1429651-50-2
ITF2357 (Givinostat) HDAC inhibitor 732302-99-7
JNJ-26481585 Potent HDAC inhibitor 875320-29-9
LAQ824 (NVP-LAQ824,Dacinostat) HDAC inhibitor,potent and novel 404951-53-7
LMK 235 HDAC4/HDAC5 inhibitor 1418033-25-6
M344 HDAC inhibitor,potent and cell-permeable 251456-60-7
MC1568 Class II HDAC inhibitor,potent and 852475-26-4
Panobinostat (LBH589) HDAC inhibitor 404950-80-7
Parthenolide 20554-84-1
Pracinostat (SB939) Pan-HDAC inhibitor 929016-96-6
Santacruzamate A (CAY10683) 1477949-42-0
Sodium Phenylbutyrate Histone deacetylase inhibitor 1716-12-7
Tasquinimod Antiangiogenic and antineoplastic agent 254964-60-8
TMP269 HDAC 4/5/7/9 inhibitor 1314890-29-3
Trichostatin A (TSA) HDAC inhibitor 58880-19-6
Tubacin HDAC6 inhibitor,potent,selective,reversible,cell-permeable 1350555-93-9
Valproic acid sodium salt (Sodium valproate) HDAC inhibitor 1069-66-5
Vorinostat (SAHA, MK0683) HDAC inhibitor 149647-78-9
genes like me logo Genes that share compounds with HDAC4: view

Drug Products

Transcripts for HDAC4 Gene

Unigene Clusters for HDAC4 Gene

Histone deacetylase 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HDAC4 Gene

No ASD Table

Relevant External Links for HDAC4 Gene

GeneLoc Exon Structure for
HDAC4
ECgene alternative splicing isoforms for
HDAC4

Expression for HDAC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HDAC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HDAC4 Gene

This gene is overexpressed in Muscle - Skeletal (x7.1) and Colon - Sigmoid (x4.1).

Protein differential expression in normal tissues from HIPED for HDAC4 Gene

This gene is overexpressed in Fetal ovary (57.5) and Bone marrow mesenchymal stem cell (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HDAC4 Gene



NURSA nuclear receptor signaling pathways regulating expression of HDAC4 Gene:

HDAC4

SOURCE GeneReport for Unigene cluster for HDAC4 Gene:

Hs.20516

mRNA Expression by UniProt/SwissProt for HDAC4 Gene:

P56524-HDAC4_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for HDAC4 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Muscle(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HDAC4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • breast
Abdomen:
  • abdominal wall
  • intestine
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with HDAC4: view

Primer Products

No data available for Protein tissue co-expression partners for HDAC4 Gene

Orthologs for HDAC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HDAC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HDAC4 34 35
  • 99.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HDAC4 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HDAC4 34 35
  • 88.96 (n)
cow
(Bos Taurus)
Mammalia HDAC4 34 35
  • 88.18 (n)
rat
(Rattus norvegicus)
Mammalia Hdac4 34
  • 86.48 (n)
mouse
(Mus musculus)
Mammalia Hdac4 34 16 35
  • 86.43 (n)
oppossum
(Monodelphis domestica)
Mammalia HDAC4 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDAC4 34 35
  • 81.51 (n)
lizard
(Anolis carolinensis)
Reptilia HDAC4 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hdac4 34
  • 71.46 (n)
zebrafish
(Danio rerio)
Actinopterygii hdac4 34 35
  • 75.71 (n)
wufc56f08 34
fruit fly
(Drosophila melanogaster)
Insecta HDAC4 36 35
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea hda-4 36 35
  • 50 (a)
F43G6.4 36
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HDA1 35
  • 11 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.21399 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
ManyToMany
CSA.5129 35
  • 31 (a)
ManyToMany
Species where no ortholog for HDAC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HDAC4 Gene

ENSEMBL:
Gene Tree for HDAC4 (if available)
TreeFam:
Gene Tree for HDAC4 (if available)

Paralogs for HDAC4 Gene

Paralogs for HDAC4 Gene

genes like me logo Genes that share paralogs with HDAC4: view

Variants for HDAC4 Gene

Sequence variations from dbSNP and Humsavar for HDAC4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_036042 A breast cancer sample
rs141942329 Likely benign 239,163,847(+) AGATT(C/G/T)CGGTG reference, synonymous-codon
rs145137674 Likely benign 239,189,950(+) AGGAG(C/T)TCCTG reference, synonymous-codon
rs146056747 Likely benign 239,111,551(+) GTGGG(A/G)GGCTC reference, synonymous-codon
rs200120991 Likely benign 239,111,518(+) GGCCA(C/T)GTGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HDAC4 Gene

Variant ID Type Subtype PubMed ID
dgv2185n106 CNV deletion 24896259
dgv2373e59 CNV duplication 20981092
dgv2374e59 CNV duplication 20981092
dgv4195n100 CNV gain 25217958
dgv4196n100 CNV gain 25217958
dgv640e201 CNV deletion 23290073
dgv641e201 CNV deletion 23290073
dgv689n67 CNV gain 20364138
dgv7353n54 CNV loss 21841781
dgv7354n54 CNV gain 21841781
dgv7355n54 CNV gain 21841781
dgv7356n54 CNV loss 21841781
dgv7357n54 CNV loss 21841781
esv1007259 CNV deletion 20482838
esv1561814 CNV deletion 17803354
esv1671397 CNV insertion 17803354
esv1680698 CNV insertion 17803354
esv1755219 CNV deletion 17803354
esv2105474 CNV deletion 18987734
esv22351 CNV loss 19812545
esv23834 CNV loss 19812545
esv26350 CNV loss 19812545
esv2659908 CNV deletion 23128226
esv2667661 CNV deletion 23128226
esv2668246 CNV deletion 23128226
esv2672769 CNV deletion 23128226
esv2673598 CNV deletion 23128226
esv2674841 CNV deletion 23128226
esv2721800 CNV deletion 23290073
esv2721801 CNV deletion 23290073
esv2721802 CNV deletion 23290073
esv2721803 CNV deletion 23290073
esv2721804 CNV deletion 23290073
esv2721805 CNV deletion 23290073
esv2721808 CNV deletion 23290073
esv2721809 CNV deletion 23290073
esv2721810 CNV deletion 23290073
esv2721811 CNV deletion 23290073
esv2721812 CNV deletion 23290073
esv2721813 CNV deletion 23290073
esv2721814 CNV deletion 23290073
esv2721815 CNV deletion 23290073
esv2721816 CNV deletion 23290073
esv2721817 CNV deletion 23290073
esv2721819 CNV deletion 23290073
esv2721820 CNV deletion 23290073
esv2721821 CNV deletion 23290073
esv2721825 CNV deletion 23290073
esv2721827 CNV deletion 23290073
esv2721828 CNV deletion 23290073
esv2721830 CNV deletion 23290073
esv2721831 CNV deletion 23290073
esv2721832 CNV deletion 23290073
esv2721833 CNV deletion 23290073
esv3561264 CNV deletion 23714750
esv3584388 CNV loss 25503493
esv3584389 CNV loss 25503493
esv3584390 CNV loss 25503493
esv3594778 CNV loss 21293372
esv3594779 CNV loss 21293372
esv3594780 CNV loss 21293372
esv5174 CNV loss 18987735
nsv1010141 CNV loss 25217958
nsv1072507 CNV deletion 25765185
nsv1072508 CNV deletion 25765185
nsv1078926 CNV insertion 25765185
nsv1111208 CNV tandem duplication 24896259
nsv1111589 CNV deletion 24896259
nsv1117378 CNV deletion 24896259
nsv1117381 CNV deletion 24896259
nsv1118899 CNV deletion 24896259
nsv1119485 CNV insertion 24896259
nsv1124825 CNV duplication 24896259
nsv1125812 CNV deletion 24896259
nsv1125813 CNV deletion 24896259
nsv1130762 CNV deletion 24896259
nsv1135889 CNV deletion 24896259
nsv1135890 CNV deletion 24896259
nsv1152712 CNV duplication 26484159
nsv214049 CNV insertion 16902084
nsv3234 CNV insertion 18451855
nsv460148 CNV loss 19166990
nsv472333 CNV novel sequence insertion 20440878
nsv473202 CNV novel sequence insertion 20440878
nsv508896 CNV insertion 20534489
nsv584779 CNV loss 21841781
nsv584780 CNV loss 21841781
nsv584781 CNV gain 21841781
nsv584791 CNV gain+loss 21841781
nsv818118 CNV gain 17921354
nsv834578 CNV loss 17160897
nsv834581 CNV loss 17160897
nsv834582 CNV loss 17160897
nsv954232 CNV deletion 24416366
nsv954233 CNV deletion 24416366

Variation tolerance for HDAC4 Gene

Residual Variation Intolerance Score: 8.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HDAC4 Gene

Human Gene Mutation Database (HGMD)
HDAC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HDAC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HDAC4 Gene

Disorders for HDAC4 Gene

MalaCards: The human disease database

(12) MalaCards diseases for HDAC4 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chromosome 2q37 deletion syndrome
  • 2q37 microdeletion syndrome
2q37 microdeletion syndrome
  • chromosome 2q37 deletion syndrome
developmental dyspraxia
  • developmental coordination disorder
albright's hereditary osteodystrophy
  • albright hereditary osteodystrophy
2q37 deletion syndrome
  • chromosome 2q37 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HDAC4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HDAC4_HUMAN
  • Brachydactyly-mental retardation syndrome (BDMR) [MIM:600430]: A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism. {ECO:0000269 PubMed:20691407, ECO:0000269 PubMed:23188045, ECO:0000269 PubMed:24715439}. Note=The gene represented in this entry is involved in disease pathogenesis. HDAC4 point mutations and chromosomal microdeletions encompassing this gene have been found in BDMR patients (PubMed:20691407, PubMed:24715439, PubMed:23188045). However, HDAC4 haploinsufficiency is not fully penetrant and multiple genes may contribute to manifestation of the full phenotypic spectrum (PubMed:24715439, PubMed:23188045). {ECO:0000269 PubMed:20691407, ECO:0000269 PubMed:23188045, ECO:0000269 PubMed:24715439}.

Relevant External Links for HDAC4

Genetic Association Database (GAD)
HDAC4
Human Genome Epidemiology (HuGE) Navigator
HDAC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HDAC4
genes like me logo Genes that share disorders with HDAC4: view

No data available for Genatlas for HDAC4 Gene

Publications for HDAC4 Gene

  1. Three proteins define a class of human histone deacetylases related to yeast Hda1p. (PMID: 10220385) Grozinger C.M. … Schreiber S.L. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
  2. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. (PMID: 20691407) Williams S.R. … Elsea S.H. (Am. J. Hum. Genet. 2010) 2 3 4 64
  3. Involvement of histone deacetylation in MORC2-mediated down- regulation of carbonic anhydrase IX. (PMID: 20110259) Shao Y. … Li F. (Nucleic Acids Res. 2010) 3 4 22 64
  4. Nuclear calcium/calmodulin-dependent protein kinase IIdelta preferentially transmits signals to histone deacetylase 4 in cardiac cells. (PMID: 17179159) Little G.H. … Poizat C. (J. Biol. Chem. 2007) 3 4 22 64
  5. The modular nature of histone deacetylase HDAC4 confers phosphorylation-dependent intracellular trafficking. (PMID: 11470791) Zhao X. … Yao T.-P. (J. Biol. Chem. 2001) 3 4 22 64

Products for HDAC4 Gene

  • Addgene plasmids for HDAC4

Sources for HDAC4 Gene

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